Mutation Details for c.326A>G

cDNA Name

c.326A>G

Protein Name

p.Tyr109Cys

Exon or Intron

exon 4

Legacy Exon or Intron

exon 4

Legacy Name

Y109C

Other Details

This mutation is exon 4 of the CFTR gene was found in a patient with CF: A->G at position 458 converting tyrosine 109 to cysteine. It has not been found on other CF- and non CF-chromosomes, minimizing the possibility of a polymorphism. The patinet has an unknown mutation on the other chromosome.